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Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SQSTM1
(A343T +1 more)
Single nucleotide variant
(missense variant)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
GUncertain significance
SQSTM1
Single nucleotide variant
(splice donor variant)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
GLikely pathogenic
SQSTM1
(E379fs +1 more)
Microsatellite
(frameshift variant)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
GPathogenic
SQSTM1
(G178fs +1 more)
Deletion
(frameshift variant)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
GPathogenic
SQSTM1
(S210fs +1 more)
Insertion
(frameshift variant)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
GPathogenic
SQSTM1
(R312* +1 more)
Indel
(nonsense)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
GPathogenic
SQSTM1
Single nucleotide variant
(splice donor variant)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
GPathogenic
SQSTM1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
+4 more
GBenign
SQSTM1
(M1V)
Single nucleotide variant
(missense variant +2 more)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
+3 more
GConflicting classifications of pathogenicity
LOC129995449, SQSTM1
(R59fs)
Duplication
(intron variant +1 more)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
GPathogenic
SQSTM1
(Q270fs +1 more)
Deletion
(frameshift variant)
Paget disease of bone 2, early-onset
+2 more
GUncertain significance
SQSTM1, MRNIP
(E313* +1 more)
Single nucleotide variant
(nonsense +1 more)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
GUncertain significance
SQSTM1
(V69I +1 more)
Single nucleotide variant
(missense variant)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
+5 more
GUncertain significance
SQSTM1
Single nucleotide variant
(synonymous variant)
Paget disease of bone 3
+7 more
GBenign/Likely benign
SQSTM1
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
SQSTM1
(R96* +1 more)
Single nucleotide variant
(nonsense)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
+2 more
GPathogenic
SQSTM1
(E104fs +1 more)
Microsatellite
(frameshift variant)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
GPathogenic
SQSTM1
(M1K)
Single nucleotide variant
(missense variant +2 more)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
GPathogenic
SQSTM1
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign
SQSTM1
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GBenign
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